{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T13:37:48Z","timestamp":1770989868641,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,1,20]],"date-time":"2021-01-20T00:00:00Z","timestamp":1611100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Epidermolysis bullosa simplex (EBS) is a heterogeneous group of inherited disorders characterized by skin fragility due to intraepidermal separation. Most cases result from heterozygous mutations in <jats:italic>KRT5<\/jats:italic> or <jats:italic>KRT14<\/jats:italic>; however, a minority of affected individuals carry mutations in non\u2010keratin genes including <jats:italic>DST<\/jats:italic> encoding an epithelial isoform of dystonin. <jats:italic>DST<\/jats:italic>\u2010associated EBS is transmitted as an autosomal recessive trait. Here, we report a series of EBS patients carrying bi\u2010allelic <jats:italic>DST<\/jats:italic> mutations and review previously reported cases aiming to delineate phenotype\u2010genotype correlations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome and direct sequencing were used for variant analysis. Review of previously reported cases was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mutation analysis revealed <jats:italic>DST<\/jats:italic> mutations in five patients belonging to three families. Two variants have not been previously reported: c.7097dupA (p.Tyr2366X) and c.7429delC (p.Leu2477Serfs*13). We identified an additional six cases in the literature, bringing the total number of individuals affected with EBS due to <jats:italic>DST<\/jats:italic> variants to 11. Patients displayed distinctive phenotypes regardless of the causative variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The current study expands the clinical and genetic spectrum of <jats:italic>DST<\/jats:italic>\u2010associated EBS subtype.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pde.14477","type":"journal-article","created":{"date-parts":[[2021,1,20]],"date-time":"2021-01-20T15:01:43Z","timestamp":1611154903000},"page":"436-441","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Epidermolysis bullosa simplex due to bi\u2010allelic <i>DST<\/i> mutations: Case series and review of the literature"],"prefix":"10.1111","volume":"38","author":[{"given":"Dalit","family":"Ganani","sequence":"first","affiliation":[{"name":"Division of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiril","family":"Malovitski","sequence":"additional","affiliation":[{"name":"Division of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ofer","family":"Sarig","sequence":"additional","affiliation":[{"name":"Division of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Gat","sequence":"additional","affiliation":[{"name":"Department of Pathology Tel Aviv Sourasky Medical Center Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4093-1032","authenticated-orcid":false,"given":"Eli","family":"Sprecher","sequence":"additional","affiliation":[{"name":"Division of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv 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